RBC Disorders Flashcards
Thalassemia Clinical Features
minor= asymptomatic major= sick
Anemia with normal iron stores
Thalassemia Diagnostics
- GOLD STANDARD= hemoglobin electrophoresis
- microcytic
- ELEVATED Indirect bilirubin LDH
- DECREASED Hbg (3-6)
- normal/increased iron
- normal TIBC
- Ferritin normal/increase
Beta-Thalassemia Clinical Features
- sxs begin 4-6months of age when switch from HgbF
- retardation
- abnormal facial structure
- osteopenia
- pathological fractures
- jaundice
- hepatosplenomegaly
Thalassemia Treatment
- blood transfusions w/iron chelator (deferoxamine)
- bone marrow transplant, splenectomy
- genetic counseling
Iron-Deficiency Anemia Characteristics
- In adults: SLOW BLEEDING: GI occult bleed secondary to PUD, NSAID, heavy menstrual blood loss
- Low dietary intake of iron in children, impoverished, pregnant
- gastronectomy (decreased absorption)
Iron-Deficiency Diagnostics
- Decreased H&H
- Smear: hypochromic, microcytic RBC
- DECREASED ferritin (under 20)
- DECREASED iron
- ELEVATED TIBC
Iron-Deficiency Treatment
- Ferrous Sulfate 325mg tid (titrate up)
- anemia will be fixed in 2 months, but continue therapy for at least 6 months to replenish stores
- iron supplementation during pregnancy and lactation is ESSENTIAL - work-up for occult blood loss
Anemia of Chronic Disease Characteristics
- chronic inflammation (blocks iron absorption from the gut and the release of iron from the bone marrow)
- RA, SLE
Anemia of Chronic Disease Labs
- 70% normocytic, 30% microcytic
- elevated CRP
- microcytic
- opposite results of Fe-deficiency (other than Fe):
- DECREASED iron
- INCREASED ferritin
- DECREASED TIBC
Anemia of Chronic Disease Treatment
- treat underlying cause!
- transfusions while symptomatic
- EPO and iron DO NOT HELP
Sideroblastic Anemia Characteristics
- reduced hemoglobin synthesis, causing build up of uron in mitochondria= RINGED-CELLS (sideroblasts)
Sideroblastic Anemia Causes
- lead poisoning
- alcoholism
- decreased copper
Sideroblastic Anemia DX
- GOLD STANDARD= bone marrow biopsy
- Increased Fe
- ferritin, TIBC wnl
- basophilic stippling of red blood cells
- microcytic
Sickle Cell Anemia Patho
-autosomal recessive Hgb SS
-sickling only occurs when homozygous
-sickling occurs due to acid, hypoxia, dehydration, temperatures
(AVOID high altitudes, deep sea diving)
Sickle Cell Clinical Features
- sxs occur at 6months yo (when Hgb F stops)
- vascular occlusions (ischemia causes pain)
- strokes
- chest syndrome
- avascular necrosis
- splenic sequestration
- delayed growth/puberty
Sickle Cell Diagnostic Studies
- hemoglobin electrophoresis
- during crisis: smear shows sickled cells
- ELEVATED retic count, indirect blilrubin, LDH
- ELEVATED WBC
Sickle Cell Treatment
- hydroxyurea for SS patients (increases Hgb F)
- Symptomatic during pain crisis: analgesics, hypotonic fluids, rest
- stroke, sequestration, acute chest syndrome may require transfusion/exchange transfusion
G6PD Deficiency Patho
decreased G6PD means RBC can’t protect against oxidative stress– POPS RBC
G6PD Deficiency Oxidative Stresses
Cause episodic hemolysis:
- Fava beans
- dapsone, atovoquone (African prophylaxis)
- infection
- quinidine, sulfanomides
G6PD Deficiency DX
- G6PD 6-8 weeks AFTER event (decrease)
- during episodes:
- ELEVATED retics and indirect bilirubin
- smear: bite cells, heinz bodies (denatured hemoglobin)
G6PD Deficiency Treatment
- Hemolytic episodes are self-limited and RBC are replaced as soon as offending agent is stopped
- avoid oxidative drugs and fava beans
Folic Acid Deficiency Characteristics
- usually from poor dietary intake (few WEEKS to deplete stores)
- folic acid is found in green-leafy vegetables
- ALCOHOLICS, anorexia, diet low in fruits/veggies
- pregnancy, chronic hemolytic anemia and exfoliative skin may need supplementation
Folic Acid Clinical Features
- sore tongue (glossitis)
- GI sxs
- NO neuro sxs
Folic Acid DX
- macro-ovalocytes and hypersegmented polymorphonuclear cells
- folate level under 150
- NORMAL MMA, elevated homocysteine
Folic Acid Treatment
- Oral replacement (1mg/day)
2. avoid alcohol and folic acid metabolism antagonist (trimethoprim, seizure medications)
B12 Deficiency Characteristics
- B12 from animal products
1. pernicious anemia most common (lack of intrinsic factor)
2. strict vegan diet
3. Crohns disease
4. Metformin use
B12 Clinical Features
- smooth tongue
- glossitis
- cheilosis
- neuro findings: stocking-glove paresthesias (loss of position, fine touch, vibration), balance problems, dementia
B12 DX
- hypersegmented neutrophils on smear
- low B12
- shilling test (rarely done)
- Anti-intrinsic antibodies
- ELEVATED MMA and homocysteine
B12 Treatment
- lifelong B12 supplementation IM for pernicious anemia
2. neuro signs/sxs are reversible if treated within 6 months
Polycythemia vera Characteristics
- Slowly progressive bone marrow disorder characterized by:
- INCREASED RBC
- JAK2 mutation - Increased RBC= hyperviscosity (decreased cerebral flow and hypercoagability)
- secondary causes: hypoxia, cigarette smoking, living @high altitudes, renal tumors
- morbidity/mortality from thrombosis
- may convert to CML/AML
Polycythemia vera Clinical Features
- headache, dizziness, fullness in head/face, weakness, fatigue, tinnitus, blurred vision, burning, pain, redness of extremities
- pruritis after bathing
- epitaxis
- plethora, hypertension, enlarged retinal arteries
- splenomegaly
Polycythemia vera Dx
- High hemocrit
- thrombocytosis, leukocytosis
- hyperuricemia
Polycythemia vera Tx
- GOLD STANDARD: phlebotomy
- myelosuppressive therapy
- hydroxyurea
- low-dose ASA to reduce thrombosis risk
